Variant report

Variant	esv1413371
Chromosome Location	chr1:240138461-240138765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10926046	chr1:240138467-240138468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369948131	chr1:240138474-240138475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201326379	chr1:240138475-240138476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10926047	chr1:240138478-240138479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4028390	chr1:240138492-240138493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3950965	chr1:240138509-240138510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4028391	chr1:240138513-240138514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199583770	chr1:240138514-240138515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142096960	chr1:240138517-240138518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3950966	chr1:240138523-240138524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527487164	chr1:240138530-240138531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368597052	chr1:240138546-240138547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367986135	chr1:240138547-240138548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199854709	chr1:240138549-240138550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12727500	chr1:240138550-240138551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553247375	chr1:240138569-240138570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377618966	chr1:240138575-240138576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564344661	chr1:240138588-240138589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550688691	chr1:240138589-240138590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577817358	chr1:240138592-240138593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2355606	chr1:240138599-240138600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562939630	chr1:240138606-240138607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530002097	chr1:240138616-240138617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547782381	chr1:240138641-240138642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542301556	chr1:240138642-240138643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376536565	chr1:240138648-240138649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144871943	chr1:240138674-240138675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561975826	chr1:240138690-240138691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57652444	chr1:240138693-240138694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111206177	chr1:240138694-240138695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111206178	chr1:240138695-240138696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3040274	chr1:240138697-240138698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145219149	chr1:240138698-240138699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61557556	chr1:240138699-240138700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3040276	chr1:240138709-240138710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533200670	chr1:240138711-240138712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202135984	chr1:240138715-240138716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200241910	chr1:240138717-240138718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3040277	chr1:240138719-240138720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372574364	chr1:240138720-240138721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369197673	chr1:240138733-240138734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201559721	chr1:240138735-240138736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369747910	chr1:240138739-240138740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373001726	chr1:240138743-240138744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28367042	chr1:240138751-240138752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375922245	chr1:240138759-240138760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240137200-240138600	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:240138200-240138800	Weak transcription	Fetal Intestine Small	intestine

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